Search PubMed⌕ Search

Biomedical subjects

A Robinson

Publications and source records attributed to A Robinson.

At least 487 records · Page 27Linked to original sources
PubMed1977

Two cases of Down syndrome with unusual de novo translocation.

Two children with the clinical features of Down syndrome were found to have several unusual cell lines. In both cases the same reverse tandem translocation between two 21 chromosomes was present in one line. This may be an unstable rearrangement. In addition, the findings offer some support for current efforts to localize the portion of chromosome 21 responsible for clinical features of Down syndrome to band 21q22. Acridine orange R banding was found to be especially useful in the identification of the break points on the translocations. The origin of the abnormality was found to be paternal in one case and was indeterminate in the second.

Cell Line↗
PubMed1977

Prenatal diagnosis: techniques used to help in ruling out maternal cell contamination.

The combined findings from a number of different analytical techniques increases confidence that the cells analysed in amniotic fluid cell cultures are fetal in origin. Three hundred and twenty four fluids were processed using in situ processing of cultured amniotic fluid cells, allowing for analysis of mitoses from multiple colonies derived from multiple culture dishes. Screening of the same samples for fluorescent Y-chromatin was of help in indicating the genotypic sex of the primary cells. This was found to be accurate in 96% of the fluids checked. In cases where an XX complement is found, Q-polymorphism comparisons can be made between mitoses from the amniotic fluid cells and maternal lymphocytes. Of 29 such studies, 19 showed pronounced differences in their polymorphism constitution.

Amniocentesis↗
PubMed1977

Epileptiform syndrome in rats produced by injecting tetanus toxin into the hippocampus.

An epileptiform syndrome in rats produced by injecting small doses (a few (mouse)LD50) of tetanus toxin into the hippocampus is described. The animals had intermittent seizures, with at least a superficial resemblance to human epilepsy, for some weeks but they eventually recovered. They were hyperkinetic for several weeks after the injection of toxin, and showed intermittent aggressive behaviour. Control animals which received similar injections of tetanus toxin first neutralised with antitoxin did not have seizures, and their behaviour appeared normal. EEG recordings showed characteristic seizure activity. Histological examination of the site of injection showed very little morphological damage.

Animals↗
PubMed1977

The early childhood development of 17 boys with sex chromosome anomalies: a prospective study.

Seventeen boys with sex chromosome anomalies were identified at birth and followed up developmentally for two to five years. The 17 included 12 boys with 47,XXY, four with 47,XYY, and one with 46,XY/XXY mosaicism. None had major disabilities in physical, intellectual, or emotional growth. Some of the boys with 47,XXY were characterized as tall, inactive, poorly organized in motor functions, placid, and delayed in language; two of the four with 47,XYY were impulsive at 1 year of age. These deviations from normal were relatively mild; the boys were not found to be at high risk for grossly abnormal development in the early years.

Child Behavior↗
PubMed1976

Papers and originals.

Six cases of persistent non-accidental poisoning of children by their parents are reported. Certain features may draw attention to the diagnosis, particularly bizarre symptoms and signs with no apparent pathological explanation, and toxicological analysis should be carried out to obtain rapid confirmation of the diagnosis. The underlying disorder may include marital conflict, overinvolvement between parent and child, or drug abuse in the parents. A suggested plan of action for managing this problem is outlined.

Child↗
PubMed1976

Transcendental meditation in hypertension. Individual response patterns.

Seven selected hypertensive patients were stabilized on drugs at a research clinic. Subjects learned transcendental meditation (T.M.), were seen weekly, and took their own blood pressure several times daily. After 12 weeks of T.M. six subjects showed psychological changes and reduced anxiety scores. Six subjects also showed significant reductions in home and four in clinic blood-pressures. Six months later four subjects continued to derive psychological benefit and two showed significant blood-pressure reductions attributable to T.M. at home and clinic.

Adult↗
PubMed1976

Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities.

Twenty-eight cases of chromosomal abnormalities were ascertained using G-banding. Seventeen of these had structural abnormalities of a complex nature and are discussed in detail. An independent assessment of chromosome abnormalities was carried out using sequential Q- and R-banding. In no case was there a difference in the identification of the abnormal chromosome, but in two cases a more precise localization or definition of the abnormality was obtained from the R-banded cells. In one case the initial diagnosis of the terminal deletion was altered to interstitial deletion; in the second case a break point in one chromosome involved in a reciprocal translocation was found to be in a different band by R-banding. In several others better delineation of break points or confirmation of complex abnormalities was obtained from the R-banded cells. R-banding was especially helpful in the localization of break points because of the color differentiation obtained with acridine orange. Q-banding was not found to have added any additional information. It was concluded from this study that the use of both G-banding and R-banding in complex abnormalities proved worthwhile.

Chromosome Aberrations↗
PubMed1976

Incidence of aneuploidy in a human population.

A population of 40,371 individuals consisting of every baby delivered at two Denver hospitals from 1964 to 1974 has been screened from aneuploidy of the sex chromosomes and chromosome 21. The pattern in time with which aneuploidy occurs suggests an epidemic component of the incidence superimposed on an approximately equal constant frequency. The epidemic incidence is most likely to be high for births from May to October, to persist for several consecutive years, and then to be absent for several consecutive years.

Age Factors↗
PubMed1976

Rh-immune globulin after amniocentesis for genetic diagnosis.

The procedure of amniocentesis during the second trimester of pregnancy for genetic diagnosis creates the potential for Rh sensitization secondary to fetomaternal bleeding. We have advised administration of Rh-immune globulin after such amniocentesis whenever the pregnancy may be Rh-incompatible. Of 56 patients who received Rh-immune globulin there has been only 1 case of Rh sensitization, which occurred in a patient who underwent a second amniocentesis 2 weeks after the first attempt without receiving a second dose of Rh-immune globulin. There have been no developmental problems detected to date which could be ascribed to Rh-immune globulin.

Adult↗